The atypical mucosal presentation had already prompted a suspicion of an underlying immunodeficiency at the time of initial presentation (11). [frontiersin.org]

Individuals with Down syndrome are known to have abnormal function of the B-cell function, which might present with high IgG and low IgM serum level. [adc.bmj.com]

So although the problem presents as an inability of B cells to make an appropriate antibody response to infections, the defect is on T cells. [dermnetnz.org]

Present Interpretation Provides information to assist in interpretation of the test results This is a qualitative assay; CD40L-protein expression and function is reported as present or absent. [mayocliniclabs.com]

For example, some HIGM patients presented with cytoplasmic and a smooth nuclear rim-staining pattern, while some presented with a nuclear dot staining pattern (Figures 2a and b). [nature.com]

• Falling

  Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions. [invitae.com]

• Pathologist

  Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication [invitae.com]

• Sepsis

  HYPER IGM SYNDROME TYPE 4 Affected individuals have developed infections of the sinuses and lungs (sinopulmonary infections), widespread infection of the blood (sepsis), inflammation and infection of the lymph nodes (lymphadenitis), and infection and [rarediseases.org]

• Urticaria

  Abstract Tumid lupus is a rare subtype of chronic cutaneous lupus that is characterized by urticaria-like photosensitive plaques. Unlike discoid lupus, it has minimal to no surface change and resolves without scarring. [karger.com]

Rheumatologic workup revealed positive ANA (1:160) and positive dsDNA (1:40). Antibodies for SS-A (Ro), SS-B(La), and SCL-70 were negative. Infectious disease workup was positive for treponemal antibody and elevated RPR (1:2). [karger.com]

Clinical Testing and Workup Blood tests will be ordered to determine the status of immunoglobulins in the blood, including normal or high levels of IgM and low levels of other immunoglobulin classes. [rarediseases.org]

• Toxoplasma Gondii

  gondii.(1) To date, more than 100 unique mutations of CD40LG, the gene that encodes CD40L, have been described, affecting the intracellular, transmembrane and, more commonly, extracellular domain containing the CD40-binding region. [mayocliniclabs.com]

Ongoing controversies regarding etiology, diagnosis, treatment [cancertherapyadvisor.com]

(C) One month after treatment. Near-normal findings. After completion of the treatment for the third relapse, secondary Leishmania prophylaxis with Miltefosine was initiated. [frontiersin.org]

Click here for more on treatment and lifestyle changes for patients with Hyper IgM Syndrome. A stem cell transplant (also known as a bone marrow transplant) is the only known cure. [hyperigm.org]

The patient was offered empiric treatment for syphilis; however, in light of no prior sexual history, he declined treatment with penicillin at the time of hospitalization. [karger.com]

The patient died after 6 weeks despite combined antiviral treatment. [jamanetwork.com]

The other forms of autosomal recessive hyper IgM (caused by mutations in AID and UNG) have a better prognosis as the defect is mainly an antibody deficiency. [cancertherapyadvisor.com]

Because of the poor prognosis, the treatment of choice is a human leukocyte antigen (HLA)-identical sibling bone marrow transplant at an early age (62,63). Treatment for this condition also includes monthly IVIG infusions (64). [lvts.fr]

Ongoing controversies regarding etiology, diagnosis, treatment [cancertherapyadvisor.com]

Infectious agents and xenobiotics in the etiology of primary biliary cirrhosis. Dis Markers 2010; 29: 287–299. Article Google Scholar 28 Abdulkarim AS, Petrovic LM, Kim WR, Angulo P, Lloyd RV, Lindor KD. [nature.com]

Holman RCJanssen RSBuehler JWZelasky MTHooper WC Epidemiology of progressive multifocal leukoencephalopathy in the United States: analysis of national mortality and AIDS surveillance data. Neurology 1991;411733- 1736PubMedGoogle ScholarCrossref 13. [jamanetwork.com]

Epidemiology Frequency United States In 2003, the US XHIGM registry reported that the minimal incidence rate of XHIGM was approximately 1 in 1,000,000 live births from 1984-1993. [4] This may be an underestimation because not all physicians in the United [emedicine.medscape.com]

[…] for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years of age Ascertaining XL-HIGM carrier status in females of child-bearing age younger than 45 years of age Clinical Information Discusses physiology, pathophysiology [mayocliniclabs.com]

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol. 2007. 94:275-306. [Medline]. Eijkhout HW, van Der Meer JW, Kallenberg CG, et al. [emedicine.medscape.com]

Antibody replacement can prevent infections and reduce mortality and morbidity, but cannot prevent cancer and other severe complications. [cancertherapyadvisor.com]

So a mutation that mostly affects T cells, prevents these T cells from “helping” B cells and therefore looks like a B cell problem. [hyperigm.org]

However it may not prevent the opportunistic infections. In some cases it also improves growth. Trimethoprim + sulphamethoxazole may be given prophylactically to prevent Pneumocystis jirovecii infection. [dermnetnz.org]

Platelets are specialized blood cells that help prevent and stop bleeding. [rarediseases.org]

Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. [medlineplus.gov]